Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.

Abstract excerpt

We describe four new mutations in the cystathionine beta-synthase gene: three point mutations localized in exons 3, 9 and 10 and one mutation in exon 12 which results in stop codon.

Topics

• Consanguinity
• Cystathionine beta-Synthase
• Exons
• Homocystinuria
• Homozygote
• Humans
• Male
• Mutation
• Mutation, Missense
• Polymorphism, Single-Stranded Conformational